Incidental Mutation 'R6696:Mms19'
| ID |
528607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mms19
|
| Ensembl Gene |
ENSMUSG00000025159 |
| Gene Name |
MMS19 cytosolic iron-sulfur assembly component |
| Synonyms |
2610042O15Rik, Mms19l, C86341, Mms19 |
| MMRRC Submission |
044814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R6696 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41932146-41969603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41942452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 359
(V359L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026168]
[ENSMUST00000163287]
[ENSMUST00000163398]
[ENSMUST00000164776]
[ENSMUST00000167820]
[ENSMUST00000171561]
[ENSMUST00000168484]
[ENSMUST00000169775]
[ENSMUST00000167927]
|
| AlphaFold |
Q9D071 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026168
AA Change: V462L
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026168
Gene: ENSMUSG00000025159
AA Change: V462L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
167 |
1.4e-29 |
PFAM |
|
Pfam:MMS19_N
|
163 |
270 |
2.4e-44 |
PFAM |
|
low complexity region
|
329 |
343 |
N/A |
INTRINSIC |
|
Pfam:MMS19_C
|
484 |
921 |
4.3e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163287
AA Change: V359L
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128653
Gene: ENSMUSG00000025159
AA Change: V359L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
3 |
265 |
9.8e-97 |
PFAM |
|
Pfam:MMS19_C
|
381 |
818 |
1e-120 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164776
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166090
AA Change: V78L
|
| SMART Domains |
Protein: ENSMUSP00000131219
Gene: ENSMUSG00000025159
AA Change: V78L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_C
|
102 |
494 |
2.2e-97 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166517
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167820
|
| SMART Domains |
Protein: ENSMUSP00000130399
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_C
|
63 |
286 |
7.9e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171561
AA Change: V505L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130900
Gene: ENSMUSG00000025159
AA Change: V505L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
312 |
6.3e-90 |
PFAM |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
Pfam:MMS19_C
|
528 |
963 |
3.9e-116 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168484
|
| SMART Domains |
Protein: ENSMUSP00000126881
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
313 |
4.6e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169775
|
| SMART Domains |
Protein: ENSMUSP00000128234
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
167 |
1.5e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167927
|
| SMART Domains |
Protein: ENSMUSP00000132483
Gene: ENSMUSG00000025159
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS19_N
|
51 |
313 |
4.6e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170209
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
T |
6: 87,442,633 (GRCm39) |
H350Q |
probably damaging |
Het |
| Arhgap25 |
C |
A |
6: 87,443,545 (GRCm39) |
V305F |
probably damaging |
Het |
| Atg3 |
A |
T |
16: 44,995,644 (GRCm39) |
I126F |
possibly damaging |
Het |
| Best2 |
A |
T |
8: 85,737,873 (GRCm39) |
L174* |
probably null |
Het |
| Ccdc134 |
T |
A |
15: 82,015,722 (GRCm39) |
D67E |
probably damaging |
Het |
| Coasy |
G |
T |
11: 100,973,927 (GRCm39) |
R31L |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,666,255 (GRCm39) |
A139T |
possibly damaging |
Het |
| Eipr1 |
C |
A |
12: 28,909,357 (GRCm39) |
T208N |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,048,850 (GRCm39) |
T606A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,826 (GRCm39) |
I853N |
probably damaging |
Het |
| Fbxw18 |
A |
C |
9: 109,517,832 (GRCm39) |
S385A |
probably benign |
Het |
| Galnt11 |
T |
C |
5: 25,460,112 (GRCm39) |
V307A |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,879,303 (GRCm39) |
Y224* |
probably null |
Het |
| Gm527 |
T |
C |
12: 64,967,866 (GRCm39) |
M96T |
possibly damaging |
Het |
| Hivep2 |
T |
C |
10: 14,009,503 (GRCm39) |
F1720S |
probably benign |
Het |
| Hltf |
T |
G |
3: 20,119,470 (GRCm39) |
|
probably null |
Het |
| Imp4 |
T |
C |
1: 34,483,327 (GRCm39) |
V247A |
probably benign |
Het |
| Iqca1 |
G |
A |
1: 90,057,922 (GRCm39) |
T259I |
probably benign |
Het |
| Klra6 |
A |
G |
6: 129,993,696 (GRCm39) |
F192L |
probably benign |
Het |
| Lnp1 |
T |
C |
16: 56,748,149 (GRCm39) |
K48E |
possibly damaging |
Het |
| Lrp4 |
A |
G |
2: 91,327,690 (GRCm39) |
D1513G |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,071,015 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,403,596 (GRCm39) |
Y590F |
probably damaging |
Het |
| Mns1 |
G |
A |
9: 72,360,044 (GRCm39) |
R398Q |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nme3 |
G |
T |
17: 25,116,268 (GRCm39) |
C158F |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,813,452 (GRCm39) |
H326L |
possibly damaging |
Het |
| Plcxd1 |
A |
G |
5: 110,249,751 (GRCm39) |
N151S |
possibly damaging |
Het |
| Prep |
A |
T |
10: 45,029,174 (GRCm39) |
N525Y |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,928 (GRCm39) |
I654V |
possibly damaging |
Het |
| Sbf2 |
T |
A |
7: 110,159,505 (GRCm39) |
Q35L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,262 (GRCm39) |
F519S |
probably damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,186,270 (GRCm39) |
I38V |
possibly damaging |
Het |
| Slc5a2 |
A |
T |
7: 127,869,215 (GRCm39) |
I332F |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,615,218 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
C |
T |
17: 86,446,619 (GRCm39) |
V47I |
possibly damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,284,796 (GRCm39) |
V618I |
probably benign |
Het |
| Tmem191 |
C |
T |
16: 17,100,886 (GRCm39) |
|
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,061,754 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
C |
T |
11: 115,682,814 (GRCm39) |
A617V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,401 (GRCm39) |
I96F |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,614,495 (GRCm39) |
F440I |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,872,401 (GRCm39) |
Q445R |
probably benign |
Het |
| Wnk1 |
A |
G |
6: 119,925,243 (GRCm39) |
L1407P |
probably damaging |
Het |
|
| Other mutations in Mms19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Mms19
|
APN |
19 |
41,936,672 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00157:Mms19
|
APN |
19 |
41,933,896 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01997:Mms19
|
APN |
19 |
41,944,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Mms19
|
APN |
19 |
41,938,418 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02171:Mms19
|
APN |
19 |
41,945,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02306:Mms19
|
APN |
19 |
41,954,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02678:Mms19
|
APN |
19 |
41,942,915 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02795:Mms19
|
APN |
19 |
41,940,845 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03233:Mms19
|
APN |
19 |
41,935,352 (GRCm39) |
splice site |
probably null |
|
|
IGL03250:Mms19
|
APN |
19 |
41,942,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0049:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0480:Mms19
|
UTSW |
19 |
41,943,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0498:Mms19
|
UTSW |
19 |
41,938,212 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0505:Mms19
|
UTSW |
19 |
41,942,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Mms19
|
UTSW |
19 |
41,951,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1102:Mms19
|
UTSW |
19 |
41,939,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1183:Mms19
|
UTSW |
19 |
41,943,270 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1544:Mms19
|
UTSW |
19 |
41,944,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1666:Mms19
|
UTSW |
19 |
41,940,995 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1668:Mms19
|
UTSW |
19 |
41,940,995 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1808:Mms19
|
UTSW |
19 |
41,954,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Mms19
|
UTSW |
19 |
41,942,116 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3055:Mms19
|
UTSW |
19 |
41,938,527 (GRCm39) |
splice site |
probably benign |
|
|
R3551:Mms19
|
UTSW |
19 |
41,938,237 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3716:Mms19
|
UTSW |
19 |
41,933,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3877:Mms19
|
UTSW |
19 |
41,954,695 (GRCm39) |
nonsense |
probably null |
|
|
R4288:Mms19
|
UTSW |
19 |
41,933,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Mms19
|
UTSW |
19 |
41,933,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4445:Mms19
|
UTSW |
19 |
41,952,372 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4446:Mms19
|
UTSW |
19 |
41,952,372 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4610:Mms19
|
UTSW |
19 |
41,933,935 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4734:Mms19
|
UTSW |
19 |
41,932,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Mms19
|
UTSW |
19 |
41,932,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5315:Mms19
|
UTSW |
19 |
41,943,201 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5492:Mms19
|
UTSW |
19 |
41,944,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5621:Mms19
|
UTSW |
19 |
41,954,752 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5643:Mms19
|
UTSW |
19 |
41,944,305 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5769:Mms19
|
UTSW |
19 |
41,952,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6567:Mms19
|
UTSW |
19 |
41,938,206 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6569:Mms19
|
UTSW |
19 |
41,952,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6588:Mms19
|
UTSW |
19 |
41,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Mms19
|
UTSW |
19 |
41,943,630 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7050:Mms19
|
UTSW |
19 |
41,939,185 (GRCm39) |
splice site |
probably null |
|
|
R7426:Mms19
|
UTSW |
19 |
41,936,717 (GRCm39) |
missense |
probably benign |
|
|
R7564:Mms19
|
UTSW |
19 |
41,935,455 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7655:Mms19
|
UTSW |
19 |
41,933,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7656:Mms19
|
UTSW |
19 |
41,933,011 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7687:Mms19
|
UTSW |
19 |
41,943,607 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7729:Mms19
|
UTSW |
19 |
41,940,904 (GRCm39) |
nonsense |
probably null |
|
|
R7942:Mms19
|
UTSW |
19 |
41,944,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Mms19
|
UTSW |
19 |
41,935,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Mms19
|
UTSW |
19 |
41,937,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Mms19
|
UTSW |
19 |
41,952,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Mms19
|
UTSW |
19 |
41,942,203 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9527:Mms19
|
UTSW |
19 |
41,952,830 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9714:Mms19
|
UTSW |
19 |
41,935,410 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:Mms19
|
UTSW |
19 |
41,945,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTGAAAGCAATTGGTGAG -3'
(R):5'- TATCCTGGGCAGTTGTTCCC -3'
Sequencing Primer
(F):5'- GCAATTGGTGAGATAAGTTTTCCC -3'
(R):5'- CCTCTGTATCAGTAGCAGCAGATG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation